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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


44 records found for search term Nkx2-2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150470452CV1269847single nucleotide variantNM_002509.4(NKX2-2):c.-75G>Anot provided [RCV001695134]benign202151374421513744Humanname
156202364CV1925728single nucleotide variantNM_002509.4(NKX2-2):c.260-4C>Gnot provided [RCV002643678]likely benign202151248921512489Humanname
156411681CV1972574single nucleotide variantNM_002509.4(NKX2-2):c.260-4C>Tnot provided [RCV002587571]likely benign202151248921512489Humanname
150449105CV1260778single nucleotide variantNM_002509.4(NKX2-2):c.259+274G>Tnot provided [RCV001680447]benign202151313721513137Humanname
152076821CV1564573single nucleotide variantNM_002509.4(NKX2-2):c.6G>T (p.Ser2=)not provided [RCV002192519]likely benign202151366421513664Humanname
151355941CV1327124single nucleotide variantNM_002509.4(NKX2-2):c.33G>T (p.Ser11=)not provided [RCV003542348]|not specified [RCV001822294]likely benign202151363721513637Humanname
597956043CV3754526single nucleotide variantNM_002509.4(NKX2-2):c.96G>A (p.Pro32=)not provided [RCV005080376]likely benign202151357421513574Humanname
155970529CV1888958single nucleotide variantNM_002509.4(NKX2-2):c.259C>T (p.Leu87=)NKX2-2-related disorder [RCV003963592]|not provided [RCV003075155]likely benign|uncertain significance202151341121513411Humanname , trait , alternate_id
156055178CV2003271single nucleotide variantNM_002509.4(NKX2-2):c.192C>T (p.Pro64=)not provided [RCV002659496]likely benign202151347821513478Humanname
405200446CV2877176single nucleotide variantNM_002509.4(NKX2-2):c.135C>T (p.Ala45=)not provided [RCV003551333]likely benign202151353521513535Humanname
405259293CV3194703single nucleotide variantNM_002509.4(NKX2-2):c.267T>C (p.Gly89=)NKX2-2-related disorder [RCV003894095]likely benign202151247821512478Humanname , trait , alternate_id
597898104CV3740786single nucleotide variantNM_002509.4(NKX2-2):c.153C>A (p.Gly51=)not provided [RCV005071949]likely benign202151351721513517Humanname
597923324CV3839968single nucleotide variantNM_002509.4(NKX2-2):c.108C>T (p.Asn36=)not provided [RCV005184707]likely benign202151356221513562Humanname
127314471CV1158758single nucleotide variantNM_002509.4(NKX2-2):c.95C>T (p.Pro32Leu)not provided [RCV001519639]|not specified [RCV001821832]benign202151357521513575Humanname
152141283CV1628915single nucleotide variantNM_002509.4(NKX2-2):c.723G>A (p.Ser241=)not provided [RCV002100811]likely benign202151202221512022Humanname
156413833CV1905583single nucleotide variantNM_002509.4(NKX2-2):c.94C>G (p.Pro32Ala)not provided [RCV003073464]uncertain significance202151357621513576Humanname
156013813CV1912597single nucleotide variantNM_002509.4(NKX2-2):c.369G>A (p.Gly123=)not provided [RCV002619040]likely benign202151237621512376Humanname
156126830CV1930668single nucleotide variantNM_002509.4(NKX2-2):c.717G>T (p.Ala239=)not provided [RCV002640549]likely benign202151202821512028Humanname
405211365CV2868041single nucleotide variantNM_002509.4(NKX2-2):c.534C>T (p.Asn178=)not provided [RCV003552646]likely benign202151221121512211Humanname
405227040CV3069465single nucleotide variantNM_002509.4(NKX2-2):c.606G>T (p.Arg202=)not provided [RCV003734231]benign202151213921512139Humanname
405165285CV3125580single nucleotide variantNM_002509.4(NKX2-2):c.385C>A (p.Arg129=)not provided [RCV003818663]likely benign202151236021512360Humanname
405086869CV3133988single nucleotide variantNM_002509.4(NKX2-2):c.462G>T (p.Ser154=)not provided [RCV003834526]likely benign202151228321512283Humanname
402495693CV3179160single nucleotide variantNM_002509.4(NKX2-2):c.693C>A (p.Gly231=)not provided [RCV003877427]likely benign202151205221512052Humanname
597969824CV3791722single nucleotide variantNM_002509.4(NKX2-2):c.459G>T (p.Leu153=)not provided [RCV005141539]likely benign202151228621512286Humanname
597848841CV3793015single nucleotide variantNM_002509.4(NKX2-2):c.708C>A (p.Ala236=)not provided [RCV005145151]likely benign202151203721512037Humanname
597971943CV3833257single nucleotide variantNM_002509.4(NKX2-2):c.363C>G (p.Gly121=)not provided [RCV005167154]likely benign202151238221512382Humanname
597926223CV3840660single nucleotide variantNM_002509.4(NKX2-2):c.588C>G (p.Pro196=)not provided [RCV005185131]likely benign202151215721512157Humanname
150442997CV1264527single nucleotide variantNM_002509.4(NKX2-2):c.124G>A (p.Ala42Thr)not provided [RCV001679511]benign202151354621513546Humanname
151353637CV1327189single nucleotide variantNM_002509.4(NKX2-2):c.108C>A (p.Asn36Lys)not provided [RCV002542513]|not specified [RCV001817133]benign|likely benign202151356221513562Humanname
151354712CV1327779single nucleotide variantNM_002509.4(NKX2-2):c.296C>T (p.Ser99Leu)not specified [RCV001819254]uncertain significance202151244921512449Humanname
151770006CV1504145single nucleotide variantNM_002509.4(NKX2-2):c.286C>A (p.Pro96Thr)not provided [RCV002045154]uncertain significance202151245921512459Humanname
156226689CV2216028single nucleotide variantNM_002509.4(NKX2-2):c.223C>A (p.Arg75Ser)Inborn genetic diseases [RCV002712487]uncertain significance202151344721513447Human1name
156382426CV2227355single nucleotide variantNM_002509.4(NKX2-2):c.266G>A (p.Gly89Asp)Inborn genetic diseases [RCV002722776]uncertain significance202151247921512479Human1name
405132225CV2905525deletionNM_002509.4(NKX2-2):c.356del (p.Pro119fs)not provided [RCV003560136]likely pathogenic202151238921512389Humanname
405277984CV3205262single nucleotide variantNM_002509.4(NKX2-2):c.121C>T (p.Pro41Ser)NKX2-2-related disorder [RCV003954304]|not provided [RCV005102934]likely benign202151354921513549Humanname , trait , alternate_id
408366203CV3516801single nucleotide variantNM_002509.4(NKX2-2):c.206G>A (p.Ser69Asn)NKX2-2-related disorder [RCV004755684]uncertain significance202151346421513464Humanname , trait , alternate_id
151808889CV1362840single nucleotide variantNM_002509.4(NKX2-2):c.716C>T (p.Ala239Val)not provided [RCV001991631]uncertain significance202151202921512029Humanname
151819222CV1463111single nucleotide variantNM_002509.4(NKX2-2):c.730C>T (p.His244Tyr)not provided [RCV002049622]uncertain significance202151201521512015Humanname
152142656CV1654392single nucleotide variantNM_002509.4(NKX2-2):c.365G>C (p.Gly122Ala)not provided [RCV002200776]benign202151238021512380Humanname
401907598CV2801165single nucleotide variantNM_002509.4(NKX2-2):c.524G>A (p.Trp175Ter)NKX2-2-related disorder [RCV003397406]uncertain significance202151222121512221Humanname , trait , alternate_id
405236099CV2887841single nucleotide variantNM_002509.4(NKX2-2):c.677C>T (p.Ala226Val)not provided [RCV003556418]likely benign202151206821512068Humanname
405706845CV3362261single nucleotide variantNM_002509.4(NKX2-2):c.688G>A (p.Ala230Thr)Inborn genetic diseases [RCV004493249]uncertain significance202151205721512057Human1name
405706853CV3362262single nucleotide variantNM_002509.4(NKX2-2):c.781A>G (p.Thr261Ala)Inborn genetic diseases [RCV004493250]uncertain significance202151196421511964Human1name
8628471CV83615single nucleotide variantNM_002509.3(NKX2-2):c.704C>T (p.Ser235Phe)Malignant melanoma [RCV000063696]not provided202151204121512041Humanname